Human genetic variants disrupt RGS14 nuclear shuttling and regulation of LTP in hippocampal neurons
Katherine E. Squires, Kyle J. Gerber, Matthew C. Tillman, Daniel J. Lustberg, Carolina Montañez‐Miranda, Meilan Zhao, Suneela Ramineni, Christopher D. Scharer, Ramendra N. Saha, Fengjue Shu, Jason P. Schroeder, Eric A. Ortlund, David Weinshenker, Serena M. Dudek, John R. Hepler
The paper identifies genetic variants in RGS14 that disrupt nuclear shuttling and impair LTP regulation in hippocampal neurons, with variant LR causing nuclear accumulation and loss of function.
Journal of Biological Chemistry · Nov 5, 2020Peer-reviewedMolecular Biology